Authors:
Mahieu-Caputo, D
Sonigo, P
Amiel, J
Simon, I
Aubry, MC
Lemerrer, M
Delezoide, AL
Gigarel, N
Dommergues, M
Dumez, Y
Citation: D. Mahieu-caputo et al., Prenatal diagnosis of sporadic Apert syndrome: A sequential diagnostic approach combining three-dimensional computed tomography and molecular biology, FETAL DIAGN, 16(1), 2001, pp. 10-12
Authors:
Amiel, J
Gigarel, N
Benacki, A
Benit, P
Valnot, I
Parfait, W
Von Kleist-Retzow, JC
Raclin, V
Hadj-Rabia, S
Dumez, Y
Rustin, P
Bonnefont, JP
Munnich, A
Rotig, A
Citation: J. Amiel et al., Prenatal diagnosis of respiratory chain deficiency by direct mutation screening, PRENAT DIAG, 21(7), 2001, pp. 602-604
Authors:
Delettre, C
Lenaers, G
Griffoin, JM
Gigarel, N
Lorenzo, C
Belenguer, P
Pelloquin, L
Grosgeorge, J
Turc-Carel, C
Perret, E
Astarie-Dequeker, C
Lasquellec, L
Arnaud, B
Ducommun, B
Kaplan, J
Hamel, CP
Citation: C. Delettre et al., Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy, NAT GENET, 26(2), 2000, pp. 207-210
Authors:
Ray, PF
Gigarel, N
Bonnefont, JP
Attie, T
Hamamah, S
Frydman, N
Vekemans, M
Frydman, R
Munnich, A
Citation: Pf. Ray et al., First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency, PRENAT DIAG, 20(13), 2000, pp. 1048-1054
Authors:
Valnot, I
Osmond, S
Gigarel, N
Mehaye, B
Amiel, J
Cormier-Daire, V
Munnich, A
Bonnefont, JP
Rustin, P
Rotig, A
Citation: I. Valnot et al., Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy, AM J HU GEN, 67(5), 2000, pp. 1104-1109